Prenatal exposure to alcohol can damage the developing fetus and is a leading preventable cause of birth defects and developmental disabilities. Despite the known adverse effects of prenatal exposure to alcohol, children who experience these effects often do not receive a correct diagnosis or referral for diagnostic evaluation because of the absence of uniformly accepted diagnostic criteria and guidelines for referral. The Centers for Disease Control and Prevention (CDC) has issued consensus guidelines to help identify persons affected by prenatal exposure to alcohol so that they and their families can receive services that enable them to achieve healthy lives. The recommendations, which were published in the October 28, 2005, issue of Morbidity and Mortality Weekly Report, include guidelines to enhance identification of and intervention for women at risk of alcohol-exposed pregnancies.

Because admission of alcohol use during pregnancy can be stigmatizing, physicians often must evaluate a child or adult for fetal alcohol syndrome (FAS) without definitive information about the mother’s use of alcohol during pregnancy. In such cases, lack of confirmation of alcohol use during pregnancy should not preclude a diagnosis of FAS if all other criteria are present. Because of the imprecise nature of exposure information, the following two qualifying terms are suggested for a finding of prenatal alcohol exposure: (1) FAS with confirmed prenatal alcohol exposure requires documentation of the alcohol consumption patterns of the birth mother during the index pregnancy on the basis of clinical observation; self-reports; reports of heavy alcohol use during pregnancy by a reliable informant; medical records documenting positive blood alcohol levels or alcohol treatment; or other social, legal, or medical problems related to drinking during the index pregnancy; and (2) FAS with unknown prenatal alcohol exposure indicates neither a confirmed presence nor a confirmed absence of exposure (e.g., the child is adopted and prenatal exposure is unknown).

Prenatal exposure to alcohol alone is not sufficient to warrant a diagnosis of FAS. The diagnosis of FAS requires documentation of three findings: (1) three specific facial abnormalities (i.e., smooth philtrum, thin vermilion border, and small palpebral fissures); (2) prenatal or postnatal growth deficit in height or weight; and (3) structural, neurologic, or functional central nervous system (CNS) abnormalities (see accompanying table). Because FAS is a syndrome rather than a specific disease, additional features may be present. For example, in addition to the facial dysmorphic features, maxillary hypoplasia often is noted in persons with FAS. Features often change with age or development. After puberty, the characteristic facial features associated with FAS can become more difficult to detect. However, the key features remain constant for most persons with FAS.

When prenatal alcohol exposure is known, a child should be referred for full FAS evaluation when substantial prenatal alcohol use by the mother has been confirmed (i.e., seven or more drinks per week, three or more drinks on multiple occasions, or both). If substantial prenatal alcohol exposure is known, in the absence of any other positive criteria, the physician should document this exposure and closely monitor the child’s ongoing growth and development.

When information about prenatal alcohol exposure is unknown, a child should be referred for full FAS evaluation if any of the following conditions are present: all three dysmorphic facial features; one or more of these facial features with growth deficits in height, weight, or both; one or more dysmorphic facial features with one or more CNS abnormalities; one or more dysmorphic facial features with growth deficits and one or more CNS abnormalities; or any report of concern by a parent or caregiver that a child has or may have FAS.

In addition to specific features associated with a diagnosis of FAS, certain social and family history factors have been associated with prenatal alcohol exposure. The possibility of prenatal alcohol exposure should be considered in persons who are experiencing or have experienced any of the following: premature maternal death related to alcohol use (disease or trauma); living with a parent who has alcoholism; current or previous abuse or neglect; current or previous involvement with child protective services agencies; a history of transient caregiving situations; or foster or adoptive placements (including kinship care).

Diagnostic Characteristics of Fetal Alcohol Syndrome

Facial dysmorphia

On the basis of racial norms, the person exhibits all three of the following facial features:

Prenatal or postnatal height, weight, or both ≤10th percentile, adjusted for age, sex, gestational age, and race or ethnicity

Central nervous system abnormalities

Structural

Head circumference ≤10th percentile, adjusted for age and sex

Clinically meaningful brain abnormalities observed through imaging

Neurologic

Neurologic problems not resulting from a postnatal insult or fever, or other soft neurologic signs outside normal limits

Functional

Test performance substantially below that expected for a person’s age, schooling, or circumstances, as evidenced by global cognitive or intellectual deficits representing multiple domains of deficit (or substantial developmental delay in younger children), with performance below the third percentile (i.e., 2 SDs below the mean for standardized testing); or functional deficits < 16th percentile (i.e., 1 SD below the mean for standardized testing) in at least three of the following domains:

Adapted from National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, U.S. Department of Health and Human Services. Fetal alcohol syndrome: guidelines for referral and diagnosis. Atlanta, Ga.: U.S. Department of Health and Human Services, CDC, 2004:20. Accessed online February 3, 2006, at:
http://www.cdc.gov/ncbddd/fas/documents/FAS_guidelines_accessible.pdf.

Prenatal or postnatal height, weight, or both ≤10th percentile, adjusted for age, sex, gestational age, and race or ethnicity

Central nervous system abnormalities

Structural

Head circumference ≤10th percentile, adjusted for age and sex

Clinically meaningful brain abnormalities observed through imaging

Neurologic

Neurologic problems not resulting from a postnatal insult or fever, or other soft neurologic signs outside normal limits

Functional

Test performance substantially below that expected for a person’s age, schooling, or circumstances, as evidenced by global cognitive or intellectual deficits representing multiple domains of deficit (or substantial developmental delay in younger children), with performance below the third percentile (i.e., 2 SDs below the mean for standardized testing); or functional deficits < 16th percentile (i.e., 1 SD below the mean for standardized testing) in at least three of the following domains:

Adapted from National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, U.S. Department of Health and Human Services. Fetal alcohol syndrome: guidelines for referral and diagnosis. Atlanta, Ga.: U.S. Department of Health and Human Services, CDC, 2004:20. Accessed online February 3, 2006, at:
http://www.cdc.gov/ncbddd/fas/documents/FAS_guidelines_accessible.pdf.

Because of the importance of documenting CNS abnormalities and the variability in functional deficits, the diagnostic process should include a thorough neuropsychological evaluation that assesses multiple domains. Physicians are encouraged to supplement their observations by obtaining standardized testing through early intervention programs, public schools, and psychologists in private practice. Such testing will facilitate the development of appropriate personalized treatment plans for persons diagnosed with FAS.

In addition to ruling out other causes of CNS abnormalities, a complete diagnosis should identify and specify other disorders that can coexist with FAS (e.g., autism, conduct disorder, oppositional defiant disorder). A person may have a conduct disorder in addition to FAS; however, not all persons with FAS have conduct disorders, and not all persons with conduct disorders have FAS. Certain functional deficits may lead to additional behavior problems. Physicians should consider organic causes, environmental contributions, and comorbidity for inclusive and exclusive purposes when evaluating a person for FAS.

Commonly reported FAS-related mental health conditions (excluding attention problems) include conduct disorders, oppositional defiant disorders, anxiety disorders, adjustment disorders, sleep disorders, and depression. Although attention problems can be classified as a mental health issue or psychiatric condition, in these guidelines, they are treated as a primary deficit resulting from alcohol-related CNS damage rather than a secondary mental health concern. Decreased adaptive skills and increased problems with daily living abilities have been documented in persons with FAS (e.g., dependent living conditions, disrupted school experiences, poor employment records, incarceration and other problems with law enforcement). These mental health–related consequences should not be used for diagnosis; however, they are prevalent among persons with FAS and are likely to result in referral and comprehensive diagnostic evaluation.

For persons with developmental disabilities and their families, diagnosis is never an endpoint. This is particularly true for persons with FAS, their families, and their communities. The diagnostic process (especially the neuropsychological assessment) should be part of a continuum of care that identifies and facilitates appropriate health care, education, and community services. Early diagnosis and a stable, nurturing home environment have been identified as strong protective factors for persons with FAS.

The learning and life skills affected by prenatal alcohol exposure can vary depending on the amount, timing, and pattern of alcohol exposure and on each person’s current and past environments. As a result, services needed for persons with FAS and their families vary according to the parts of the brain affected, the person’s age or maturity level, the health or functioning of the family, and the person’s overall living environment. Thus, the service needs of affected persons and their families should be individualized. Certain general areas of service and specific services have been identified as helpful for persons with FAS and their families.

Interventions should include strategies that stabilize home placement and improve parent-child interaction. One means of accomplishing this goal is to increase the understanding of the disorder among parents, teachers, law enforcement personnel, and other professionals who may become involved with affected persons. Children with FAS often need specialized parenting techniques because of their difficulty with cause-and-effect reasoning and other executive functioning skills. Caregiver education should highlight and explain differences in the thought processes of children with FAS compared with typically developing children and children with other developmental disabilities. This knowledge would enable parents to avoid potentially difficult situations (e.g., overly stimulating environments) and better manage problems when they arise.

Infants and children with prenatal exposure to alcohol often enter the foster or adoptive care system at an early age. The prevalence of children with FAS or a related disorder in the foster care system is estimated to be 10 times that in the general population. Although child protective services agencies may have information about a child’s prenatal history, staff generally do not know about FAS, understand how FAS affects the child, or communicate with other service systems about the child’s FAS status. As a result, foster and adoptive families typically are not educated about the long-term effects of FAS and are unprepared to meet these children’s needs.

The assessment process is integral to both the FAS diagnosis and the development of an effective treatment plan. Treatment plans minimize risk factors for lifelong negative consequences and promote protective factors that maximize developmental potential. Physicians must ensure that assessments include communication and social skills; emotional maturity; verbal and comprehension abilities; language usage; and, if appropriate, referral for medication assessment.

Because no safe threshold of alcohol use during pregnancy has been established, the CDC recommends that women who are pregnant, planning a pregnancy, or at risk for pregnancy should not drink alcohol. Women of childbearing age who are not pregnant should drink no more than seven alcoholic drinks per week and no more than three drinks on any one occasion.

Federal, state, and local agencies; physicians and researchers; educational and social service professionals; and families should work together to educate women of childbearing age and their communities about the risks of drinking alcohol during pregnancy. Women who have had a child with FAS are at especially high risk for giving birth to another affected child. Universal screening for alcohol use among all women of childbearing age may help identify women who drink more than the recommended amounts as well as those who drink and may become pregnant. Screening can be performed in physicians’ offices or in community health settings. Screening techniques that include measures of quantity, frequency, and heavy episodic drinking, as well as behavioral manifestations of risk drinking, are most beneficial; simple questionnaires have been developed to screen for problematic alcohol use among adults in multiple populations and settings.

Effective prevention programs use a multicomponent approach that combines cognitive-behavioral techniques with norms clarification, education, and motivational enhancement interventions. Effective treatment alternatives for women who screen positive for hazardous alcohol use include brief interventions that use time-limited, self-help, and preventive strategies to promote reductions in alcohol use and that facilitate referral of alcohol-dependent persons to specialized treatment programs. Preconception counseling of women of childbearing age who are at risk for an alcohol-exposed pregnancy and who are not using effective contraception is a promising method of prevention.

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